Evaluation of a New Closed-System Automated RT-qPCR Assay for the Rapid Detection and Monitoring of Common Nucleophosmin Mutations in Patients with Acute Myeloid Leukemia

Int J Mol Sci. 2024 Jul 19;25(14):7912. doi: 10.3390/ijms25147912.

Abstract

Quantitative assessment of nucleophosmin 1 (NPM1) mutation status is integral to evaluating measurable residual disease (MRD) in NPM1-mutated acute myeloid leukemia (AML) patients. In a retrospective study, leftover peripheral blood (PB) specimens (n = 40) which were collected for routine clinical diagnostic evaluations of AML disease burden were tested by both a novel automated RT-qPCR quantitative NPM1 assay (Xpert NPM1 mutation assay) and the NPM1 mutA, mutB&D MutaQuant kit. Based on a Deming regression analysis, there was a high correlation (slope = 0.92; intercept = 0.12; Pearson's r = 0.982) between the quantitative results of the Xpert NPM1 mutation assay and the NPM1 mutA, mutB&D MutaQuant kit. The Xpert test quantitative results are thus highly correlated with the comparator method and the former has potential as a useful alternative for the monitoring of AML patients with a known NPM1 mutation.

Keywords: acute myeloid leukemia; minimal residual disease (MRD); monitoring; nucleophosmin (NPM1) mutation; polymerase chain reaction.

MeSH terms

  • Female
  • Humans
  • Leukemia, Myeloid, Acute* / diagnosis
  • Leukemia, Myeloid, Acute* / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm, Residual / diagnosis
  • Neoplasm, Residual / genetics
  • Nuclear Proteins* / genetics
  • Nucleophosmin*
  • Real-Time Polymerase Chain Reaction* / methods
  • Retrospective Studies

Substances

  • Nucleophosmin
  • NPM1 protein, human
  • Nuclear Proteins

Grants and funding

The authors declare that this study received funding from Cepheid. The study sponsor (Cepheid) provided the investigational product, as well as administrative and logistical support provided to the participating clinical sites. The sponsor was involved in the design and conduct of the clinical study and assisted in the monitoring and collection of data. The sponsor participated in the interpretation of the data and preparation of the manuscript.